Protease inhibitors suppress the degradation of mutant adrenoleukodystrophy proteins but do not correct impairment of very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.

Abstract excerpt

The adrenoleukodystrophy (ALD) gene product, ALD protein (ALDP), was not detected in fibroblasts from our or most other patients with ALD as determined by immunoblot or immunocytochemistry. We investigated the stability of mutant ALDP and found from pulse-chase experiments that the respective half-lives of the normal and mutant #140 (Gly512Ser) and #249 (Arg660Trp) were 72.6, 32.1 and 26.1 min, indicative that...

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